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Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs
Authors:F Lingaas  T Aarskaug  M Sletten  I Bjerkås  U Grimholt  L Moe  R K Juneja  A N Wilton  F Galibert  N G Holmes  & G Dolf
Institution:Norwegian Kennel Club and Department of Morphology, Genetics and Aquatic Biology, Norwegian College of Veterinary Medicine, PO Box 8146 Dep., N-0033 Oslo, NorwayDepartment of Morphology, Genetics and Aquatic Biology, Norwegian College of Veterinary Medicine, PO Box 8146 Dep., N-0033 Oslo, NorwayL MoeDepartment of Small Animal Medicine, Norwegian College of Veterinary Medicine, PO Box 8146 Dep., N-0033 Oslo, NorwayR K JunejaDepartment of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Box 7023, 750 07 Uppsala, SwedenA N WiltonSchool of Biochemistry and Molecular Genetics, University of New South Wales, Sydney, NSW 2052, AustraliaF GalibertCNRS Laboratoire de Recombinaisons Genetiques FacultéMedecine, 2 Rue Leon Bernard, Rennes 35000, FranceN G HolmesCentre for Preventive Medicine, Animal Health Trust, PO Box 5, Newmarket, Suffolk CB8 7DW, UKG DolfInstitute of Animal Breeding, University of Berne, Bremgarten-strasse 109a, 3012 Berne, Switzerland
Abstract:The neuronal ceroid lipofuscinoses (NCL) are a group of fatal autosomal recessive neurodegenerative diseases occurring in human and some domesticated animal species. A canine form of the disease (CNCL) has been extensively studied in a Norwegian colony of inbred English setters since 1960. A resource family developed for genetic mapping and comprising 170 individuals was typed for 103 genetic markers. Linkage analysis showed three genetic markers to be linked to the disease locus with the closest marker at a distance of about 3 c m . Two other loci were linked with these markers making a linkage group of five genetic markers. The linkage group spanned a distance of 54 c m . Two genes for human forms of the disease, CLN2 and CLN3 , have been identified and mapped to human chromosome 11p15 and 16p12, respectively. The present study did not indicate any linkage between CNCL and the canine CLN3 homologue or to homologues of markers for genes that map close to human CLN2 .
Keywords:autosomal recessive  canine neuronal ceroid lipofuscinosis  comparative genetics  dog genetics  genetic mapping  inherited disease  linkage
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